Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus

Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. Case report: A 28-year-old woman, gravida 1...

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Main Authors: André Travessa (Author), Patrícia Dias (Author), Pedro Rocha (Author), Ana Berta Sousa (Author)
Format: Book
Published: Elsevier, 2017-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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